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Showing results for ISSN matching 1471-2350

Understanding the molecular association between hyperkalemia and lung squamous cell carcinomas

JOURNAL ARTICLE published October 2020 in BMC Medical Genetics

Authors: Xianping Meng | Hongyan Lu | Xia Jiang | Bin Huang | Song Wu | Guiping Yu | Hongbao Cao

https://doi.org/10.1186/s12881-020-01099-7 Actions

Novel compound heterozygous mutations in OCA2 gene associated with non-syndromic oculocutaneous albinism in a Chinese Han patient: a case report

JOURNAL ARTICLE published December 2019 in BMC Medical Genetics

Authors: Hairong Wang | Yang Wan | Yun Yang | Hao Li | Liangwei Mao | Shuyang Gao | Jingjing Xu | Jing Wang

https://doi.org/10.1186/s12881-019-0850-7 Actions

Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases

JOURNAL ARTICLE published December 2017 in BMC Medical Genetics

Research funded by Ministero della Salute Regione Lombardia (Ricerca Finalizzata 2011-2012, RF-2011-02347106) | Fondazione IRCCS Ca’ Granda, Ospedale Maggiore Policlinico, Milano (5X1000 2013)

Authors: Maria Francesca Bedeschi | Mariarosaria Calvello | Leda Paganini | Lidia Pezzani | Marco Baccarin | Laura Fontana | Silvia M. Sirchia | Silvana Guerneri | Lorena Canazza | Ernesto Leva | Lorenzo Colombo | Faustina Lalatta | Fabio Mosca | Silvia Tabano | Monica Miozzo

https://doi.org/10.1186/s12881-017-0470-z Actions

A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease

JOURNAL ARTICLE published December 2018 in BMC Medical Genetics

Research funded by Natural Science Foundation of Hainan Province (817347)

Authors: Xing Wu | Lanlan Chen | Yixin Zhang | Hainan Xie | Meirong Xue | Yi Wang | Houbin Huang

https://doi.org/10.1186/s12881-018-0716-4 Actions

Characterization of the c.793-1G > A splicing variant in CHEK2 gene as pathogenic: a case report

JOURNAL ARTICLE published December 2019 in BMC Medical Genetics

Authors: Konstantinos Agiannitopoulos | Eirini Papadopoulou | Georgios N. Tsaousis | Georgia Pepe | Stavroula Kampouri | Mehmet Ali Kocdor | George Nasioulas

https://doi.org/10.1186/s12881-019-0862-3 Actions

Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report

JOURNAL ARTICLE published December 2018 in BMC Medical Genetics

Authors: Kristen Westenfield | Kyriakie Sarafoglou | Laura C. Speltz | Elizabeth I. Pierpont | Joan Steyermark | David Nascene | Matthew Bower | Mary Ella Pierpont

https://doi.org/10.1186/s12881-018-0617-6 Actions

Chinese family with diffuse oesophageal leiomyomatosis: a new COL4A5/COL4A6 deletion and a case of gonosomal mosaicism

JOURNAL ARTICLE published December 2015 in BMC Medical Genetics

Authors: Wei Liu | John KL Wong | Qiuming He | Emily HM Wong | Clara SM Tang | Ruizhong Zhang | Man-ting So | Kenneth KY Wong | John Nicholls | Stacey S Cherny | Pak C Sham | Paul K Tam | Maria-Mercè Garcia-Barcelo | Huimin Xia

https://doi.org/10.1186/s12881-015-0189-7 Actions

Association of single nucleotide polymorphism rs3792876 in SLC22A4 gene with autoimmune thyroid disease in a Chinese Han population

JOURNAL ARTICLE published December 2015 in BMC Medical Genetics

Authors: Xin Hou | Jinyuan Mao | Yushu Li | Jia Li | Weiwei Wang | Chenling Fan | Hong Wang | Hongmei Zhang | Zhongyan Shan | Weiping Teng

https://doi.org/10.1186/s12881-015-0222-x Actions

Exome sequencing identifies mutations in ABCD1 and DACH2in two brothers with a distinct phenotype

JOURNAL ARTICLE published December 2014 in BMC Medical Genetics

Authors: Yanliang Zhang | Yanhui Liu | Ya Li | Yong Duan | Keyun Zhang | Junwang Wang | Yong Dai

https://doi.org/10.1186/s12881-014-0105-6 Actions

Systematic identification of DNA variants associated with ultraviolet radiation using a novel Geographic-Wide Association Study (GeoWAS)

JOURNAL ARTICLE published December 2013 in BMC Medical Genetics

Authors: Irving Hsu | Rong Chen | Aditya Ramesh | Erik Corona | Hyunseok Peter Kang | David Ruau | Atul J Butte

https://doi.org/10.1186/1471-2350-14-62 Actions

Correction to: Screening and computational analysis of colorectal associated non-synonymous polymorphism in CTNNB1 gene in Pakistani population

JOURNAL ARTICLE published December 2020 in BMC Medical Genetics

Authors: S. Razak | N. Bibi | J. A. Dar | T. Afsar | A. Almajwal | Z. Parveen | S. Jahan

https://doi.org/10.1186/s12881-020-0979-4 Actions

Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report

JOURNAL ARTICLE published December 2012 in BMC Medical Genetics

Authors: Aleksander Jamsheer | Anna Sowińska | Leszek Kaczmarek | Anna Latos-Bieleńska

https://doi.org/10.1186/1471-2350-13-4 Actions

The role of MMP-12 gene polymorphism − 82 A-to-G (rs2276109) in immunopathology of COPD in polish patients: a case control study

JOURNAL ARTICLE published December 2019 in BMC Medical Genetics

Research funded by Narodowe Centrum Nauki (DEC-2011/03/B/NZ5/05790)

Authors: Iwona Gilowska | Edyta Majorczyk | Łukasz Kasper | Katarzyna Bogacz | Jan Szczegielniak | Marta Kasper | Jacek Kaczmarski | Aleksandra Skomudek | Marcin Czerwinski | Krzysztof Sładek

https://doi.org/10.1186/s12881-019-0751-9 Actions

KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature

JOURNAL ARTICLE published December 2020 in BMC Medical Genetics

Research funded by Department of Biotechnology , Ministry of Science and Technology (BT/PR18182/BIC/101/937/2016)

Authors: Kishore Kumar | Anikha Bellad | Pramada Prasad | Satish Chandra Girimaji | Babylakshmi Muthusamy

https://doi.org/10.1186/s12881-020-01074-2 Actions

Expression profiling of clonal lymphocyte cell cultures from Rett syndrome patients

JOURNAL ARTICLE published December 2006 in BMC Medical Genetics

Authors: Ivan J Delgado | Dong Sun Kim | Karen N Thatcher | Janine M LaSalle | Ignatia B Van den Veyver

https://doi.org/10.1186/1471-2350-7-61 Actions

Association study between a polymorphic poly-T repeat sequence in the promoter of the somatostatin gene and metabolic syndrome

JOURNAL ARTICLE published December 2018 in BMC Medical Genetics

Research funded by Canadian Institutes of Health Research (CTP‑82941)

Authors: Monique Tremblay | Diane Brisson | Daniel Gaudet

https://doi.org/10.1186/s12881-018-0641-6 Actions

Annual acknowledgement of reviewers

JOURNAL ARTICLE published December 2016 in BMC Medical Genetics

Authors: Timothy R. Sands

https://doi.org/10.1186/s12881-016-0277-3 Actions

Genetic mapping of a new heart rate QTL on chromosome 8 of spontaneously hypertensive rats

JOURNAL ARTICLE published December 2007 in BMC Medical Genetics

Authors: Gustavo JJ Silva | Alexandre C Pereira | Eduardo M Krieger | José E Krieger

https://doi.org/10.1186/1471-2350-8-17 Actions

SNP55, a new functional polymorphism of MDM2-P2 promoter, contributes to allele-specific expression of MDM2 in endometrial cancers

JOURNAL ARTICLE published December 2015 in BMC Medical Genetics

Authors: Kanako Okamoto | Ryosuke Tsunematsu | Tomoko Tahira | Kenzo Sonoda | Kazuo Asanoma | Hiroshi Yagi | Tomoko Yoneda | Kenshi Hayashi | Norio Wake | Kiyoko Kato

https://doi.org/10.1186/s12881-015-0216-8 Actions

Report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I

JOURNAL ARTICLE published December 2016 in BMC Medical Genetics

Research funded by Samsung Medical Center (GFO 1140061) | Samsung Bio Research Institute (SMO1131471)

Authors: Min Jung Kwak | Rimm Huh | Jinsup Kim | Hyung-Doo Park | Sung Yoon Cho | Dong-Kyu Jin

https://doi.org/10.1186/s12881-016-0319-x Actions
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